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Items: 1 to 20 of 51

1.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis
Arthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati, Chiara Klöckner, Katrine M Johannesen, Kimberly Goodspeed, Marie Macnee, Alexander T Deng, Ángel Aledo-Serrano, Artem Borovikov, Maina Kava, Arjan M Bouman, M J Hajianpour, Deb K Pal, Marc Engelen, Eveline E O Hagebeuk, Marwan Shinawi, Alexis R Heidlebaugh, Kathryn Oetjens, Trevor L Hoffman, Pasquale Striano, Amanda S Freed, Line Futtrup, Thomas Balslev, Anna Abulí, Leslie Danvoye, Damien Lederer, Tugce Balci, Maryam Nabavi Nouri, Elizabeth Butler, Sarah Drewes, Kalene van Engelen, Katherine B Howell, Jean Khoury, Patrick May, Marena Trinidad, Steven Froelich, Johannes R Lemke, Jacob Tiller, Amber N Freed, Jing-Qiong Kang, Arthur Wuster, Rikke S Møller, Dennis Lal
Brain. 2023 Dec; 146(12): 5198–5208. Published online 2023 Aug 30. doi: 10.1093/brain/awad292
PMCID:
PMC10689929
AbstractArticlePDF–574K
2.
Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1
Dolores Piniella, Ania Canseco, Silvia Vidal, Clara Xiol, Aránzazu Díaz de Bustamante, Itxaso Martí-Carrera, Judith Armstrong, Ugo Bastolla, Francisco Zafra
Int J Mol Sci. 2023 Jan; 24(2): 955. Published online 2023 Jan 4. doi: 10.3390/ijms24020955
PMCID:
PMC9862756
AbstractArticlePDF–21M
3.
Structural basis of GABA reuptake inhibition
Zenia Motiwala, Nanda Gowtham Aduri, Hamidreza Shaye, Gye Won Han, Jordy Homing Lam, Vsevolod Katritch, Vadim Cherezov, Cornelius Gati
Nature. Author manuscript; available in PMC 2022 Aug 22.
Published in final edited form as: Nature. 2022 Jun; 606(7915): 820–826. Published online 2022 Jun 8. doi: 10.1038/s41586-022-04814-x
Correction in:
Nature. 2022 Jul 15
PMCID:
PMC9394549
AbstractArticlePDF–4.1M
4.
Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD
Sarah Poliquin, Inna Hughes, Wangzhen Shen, Felicia Mermer, Juexin Wang, Taralynn Mack, Dong Xu, Jing-Qiong Kang
Exp Neurol. Author manuscript; available in PMC 2022 May 18.
Published in final edited form as: Exp Neurol. 2021 Aug; 342: 113723. Published online 2021 May 5. doi: 10.1016/j.expneurol.2021.113723
PMCID:
PMC9116449
AbstractArticlePDF–1.0M
5.
Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons
Felicia Mermer, Sarah Poliquin, Kathryn Rigsby, Anuj Rastogi, Wangzhen Shen, Alejandra Romero-Morales, Gerald Nwosu, Patrick McGrath, Scott Demerast, Jason Aoto, Ganna Bilousova, Dennis Lal, Vivian Gama, Jing-Qiong Kang
Brain. 2021 Aug; 144(8): 2499–2512. Published online 2021 May 24. doi: 10.1093/brain/awab207
PMCID:
PMC8418336
AbstractArticlePDF–1.6M
6.
Current knowledge of SLC6A1-related neurodevelopmental disorders
Kimberly Goodspeed, Eduardo Pérez-Palma, Sumaiya Iqbal, Dominique Cooper, Annalisa Scimemi, Katrine M Johannesen, Arthur Stefanski, Scott Demarest, Katherine L Helbig, Jingqiong Kang, Frances C Shaffo, Brandon Prentice, Catherine A Brownstein, Byungchan Lim, Ingo Helbig, Emily De Los Reyes, Dianalee McKnight, Vincenzo Crunelli, Arthur J Campbell, Rikke S Møller, Amber Freed, Dennis Lal
Brain Commun. 2020; 2(2): fcaa170. Published online 2020 Oct 13. doi: 10.1093/braincomms/fcaa170
PMCID:
PMC7677605
AbstractArticlePDF–1.1M
7.
Molecular Dynamic Simulations to Probe Stereoselectivity of Tiagabine Binding with Human GAT1
Sadia Zafar, Ishrat Jabeen
Molecules. 2020 Oct; 25(20): 4745. Published online 2020 Oct 16. doi: 10.3390/molecules25204745
PMCID:
PMC7587590
AbstractArticlePDF–4.6M
8.
Overexpression of SLC6A1 associates with drug resistance and poor prognosis in prostate cancer
Chaojiang Chen, Zhiduan Cai, Yangjia Zhuo, Ming Xi, Zhuoyuan Lin, Funeng Jiang, Zezhen Liu, Yueping Wan, Yu Zheng, Jianxin Li, Xing Zhou, Jianguo Zhu, Weide Zhong
BMC Cancer. 2020; 20: 289. Published online 2020 Apr 6. doi: 10.1186/s12885-020-06776-7
PMCID:
PMC7137497
AbstractArticlePDF–2.3M
9.
De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia
Elliott Rees, Jun Han, Joanne Morgan, Noa Carrera, Valentina Escott-Price, Andrew J. Pocklington, Madeleine Duffield, Lynsey Hall, Sophie E. Legge, Antonio F. Pardiñas, Alexander L. Richards, Julian Roth, Tatyana Lezheiko, Nikolay Kondratyev, Vasilii Kaleda, Vera Golimbet, Mara Parellada, Javier González-Peñas, Celso Arango, GROUP Investigators, Micha Gawlik, George Kirov, James T. R. Walters, Peter Holmans, Michael C. O’Donovan, Michael J. Owen
Nat Neurosci. Author manuscript; available in PMC 2020 Jul 13.
Published in final edited form as: Nat Neurosci. 2020 Feb; 23(2): 179–184. Published online 2020 Jan 13. doi: 10.1038/s41593-019-0565-2
PMCID:
PMC7007300
AbstractArticlePDF–628K
10.
Defining the phenotypic spectrum of SLC6A1 mutations
Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna-Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaetan Lesca, Marie-Thérèse Abi-Warde, Jamel Chelly, Amélie Piton|, J. Lawrence Merritt, II, Lance H. Rodan, Wen-Hann Tan, Lynne M. Bird, Mark Nespeca, Joseph G. Gleeson, Yongjin Yoo, Murim Choi, Jong-Hee Chae, Desiree Czapansky-Beilman, Sara Chadwick Reichert, Manuela Pendziwiat, Judith S. Verhoeven, Helenius J. Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G. Weber, Caroline Nava, Boris Keren, Diane Doummar, Elise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica E. Shaw, Laura Pisani, Candace T. Myers, Sha Tang, Shan Tang, Deb K. Pal, John J. Millichap, Gemma L. Carvill, Kathrine L. Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C. Mefford, Rikke S. Møller
Epilepsia. Author manuscript; available in PMC 2019 Feb 1.
Published in final edited form as: Epilepsia. 2018 Feb; 59(2): 389–402. Published online 2018 Jan 8. doi: 10.1111/epi.13986
PMCID:
PMC5912688
AbstractArticlePDF–935K
11.
An Extra Amino Acid Residue in Transmembrane Domain 10 of the γ-Aminobutyric Acid (GABA) Transporter GAT-1 Is Required for Efficient Ion-coupled Transport
Oshrat Dayan, Anu Nagarajan, Raven Shah, Assaf Ben-Yona, Lucy R. Forrest, Baruch I. Kanner
J Biol Chem. 2017 Mar 31; 292(13): 5418–5428. Published online 2017 Feb 17. doi: 10.1074/jbc.M117.775189
PMCID:
PMC5392685
AbstractArticlePDF–2.2M
12.
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures
Samantha Palmer, Meghan C. Towne, Phillip L. Pearl, Renee C. Pelletier, Casie A. Genetti, Jiahai Shi, Alan H. Beggs, Pankaj B. Agrawal, Catherine A. Brownstein
Pediatr Neurol. Author manuscript; available in PMC 2017 Jan 10.
Published in final edited form as: Pediatr Neurol. 2016 Nov; 64: 77–79. Published online 2016 Jul 28. doi: 10.1016/j.pediatrneurol.2016.07.012
PMCID:
PMC5223550
AbstractArticlePDF–224K
13.
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures
Gemma L. Carvill, Jacinta M. McMahon, Amy Schneider, Matthew Zemel, Candace T. Myers, Julia Saykally, John Nguyen, Angela Robbiano, Federico Zara, Nicola Specchio, Oriano Mecarelli, Robert L. Smith, Richard J. Leventer, Rikke S. Møller, Marina Nikanorova, Petia Dimova, Albena Jordanova, Steven Petrou, EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group, Ingo Helbig, Pasquale Striano, Sarah Weckhuysen, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford
Am J Hum Genet. 2015 May 7; 96(5): 808–815. doi: 10.1016/j.ajhg.2015.02.016
PMCID:
PMC4570550
AbstractArticlePDF–286K
14.
Conformationally Sensitive Proximity of Extracellular Loops 2 and 4 of the γ-Aminobutyric Acid (GABA) Transporter GAT-1 Inferred from Paired Cysteine Mutagenesis
Maram Hilwi, Oshrat Dayan, Baruch I. Kanner
J Biol Chem. 2014 Dec 5; 289(49): 34258–34266. Published online 2014 Oct 22. doi: 10.1074/jbc.M114.593061
PMCID:
PMC4256357
AbstractArticlePDF–1.7M
15.
The Aromatic and Charge Pairs of the Thin Extracellular Gate of the γ-Aminobutyric Acid Transporter GAT-1 Are Differently Impacted by Mutation
Oshrat Dayan, Assaf Ben-Yona, Baruch I. Kanner
J Biol Chem. 2014 Oct 10; 289(41): 28172–28178. Published online 2014 Aug 20. doi: 10.1074/jbc.M114.589721
PMCID:
PMC4192473
AbstractArticlePDF–2.3M
16.
A Steered Molecular Dynamics Study of Binding and Translocation Processes in the GABA Transporter
Søren Skovstrup, Laurent David, Olivier Taboureau, Flemming Steen Jørgensen
PLoS One. 2012; 7(6): e39360. Published online 2012 Jun 21. doi: 10.1371/journal.pone.0039360
PMCID:
PMC3380839
AbstractArticlePDF–1.1M
17.
An Acidic Amino Acid Transmembrane Helix 10 Residue Conserved in the Neurotransmitter:Sodium:Symporters Is Essential for the Formation of the Extracellular Gate of the γ-Aminobutyric Acid (GABA) Transporter GAT-1
Assaf Ben-Yona, Baruch I. Kanner
J Biol Chem. 2012 Mar 2; 287(10): 7159–7168. Published online 2012 Jan 10. doi: 10.1074/jbc.M111.323634
PMCID:
PMC3293522
AbstractArticlePDF–1.4M
18.
A Glutamine Residue Conserved in the Neurotransmitter:Sodium:Symporters Is Essential for the Interaction of Chloride with the GABA Transporter GAT-1
Assaf Ben-Yona, Annie Bendahan, Baruch I. Kanner
J Biol Chem. 2011 Jan 28; 286(4): 2826–2833. Published online 2010 Nov 23. doi: 10.1074/jbc.M110.149732
PMCID:
PMC3024778
AbstractArticlePDF–1.0M
19.
Turnover Rate of the γ-Aminobutyric Acid Transporter GAT1
Albert L. Gonzales, William Lee, Shelly R. Spencer, Raymond A. Oropeza, Jacqueline V. Chapman, Jerry Y. Ku, Sepehr Eskandari
J Membr Biol. Author manuscript; available in PMC 2010 Dec 23.
Published in final edited form as: J Membr Biol. 2007 Dec; 220(1-3): 33–51. Published online 2007 Nov 9. doi: 10.1007/s00232-007-9073-5
PMCID:
PMC3009666
AbstractArticlePDF–1.0M
20.
Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity
Rungnapa Hirunsatit, Elizabeth D. George, Barbara K. Lipska, Hani M. Elwafi, Lisa Sander, Carolyn M. Yrigollen, Joel Gelernter, Elena L. Grigorenko, Jaakko Lappalainen, Shrikant Mane, Angus C. Nairn, Joel E. Kleinman, Arthur A. Simen
Pharmacogenet Genomics. Author manuscript; available in PMC 2009 Dec 10.
Published in final edited form as: Pharmacogenet Genomics. 2009 Jan; 19(1): 53–65. doi: 10.1097/FPC.0b013e328318b21a
PMCID:
PMC2791799
AbstractArticlePDF–1.0M

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